Canonical Allele Identifier: CA2678877149

Gene: XPO5 POLR1C

Linked Data

• gnomAD v4: 6-43524924-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524927_43524928del , CM000668.2:g.43524927_43524928del	GRCh38
NC_000006.11:g.43492665_43492666del , CM000668.1:g.43492665_43492666del	GRCh37
NC_000006.10:g.43600643_43600644del	NCBI36
NG_028283.3:g.20226_20227del
NG_051658.1:g.56150_56151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265351.12:c.3217_3218del (XPO5) MANE Select	ENSP00000265351.7:p.Phe1073HisfsTer?
ENST00000607635.2:c.922+3879_922+3880del (POLR1C)	ENSP00000496683.1:n.922+3879_922+3880del
ENST00000643341.1:c.922+3879_922+3880del (POLR1C)	ENSP00000496018.1:n.922+3879_922+3880del
ENST00000643799.1:c.*17+3610_*17+3611del (POLR1C)	ENSP00000494529.1:n.*17+3610_*17+3611del
ENST00000646433.1:c.922+3879_922+3880del (POLR1C)	ENSP00000494368.1:n.922+3879_922+3880del
ENST00000646700.1:c.922+3879_922+3880del (POLR1C)	ENSP00000495521.1:n.922+3879_922+3880del
ENST00000265351.11:c.3217_3218del (XPO5)	ENSP00000265351.7:p.Phe1073HisfsTer?
ENST00000304004.7:c.922+3879_922+3880del (POLR1C)	ENSP00000307212.3:n.922+3879_922+3880del
ENST00000455285.2:c.561_562del (XPO5)
ENST00000455854.2:n.1700_1701del (XPO5)
ENST00000486936.2:c.404_405del (XPO5)
ENST00000488195.6:n.614_615del (XPO5)
NM_020750.2:c.3217_3218del (XPO5)	NP_065801.1:p.Phe1073HisfsTer?
XM_005249491.1:c.922+3879_922+3880del (POLR1C)	XP_005249548.1:n.922+3879_922+3880del
XM_011515000.1:c.922+3879_922+3880del (POLR1C)	XP_011513302.1:n.922+3879_922+3880del
NM_001318876.1:c.922+3879_922+3880del (POLR1C)	NP_001305805.1:n.922+3879_922+3880del
NM_001363658.1:c.922+3879_922+3880del (POLR1C)	NP_001350587.1:n.922+3879_922+3880del
NR_144392.1:n.3566_3567del (XPO5)
NM_020750.3:c.3217_3218del (XPO5) MANE Select	NP_065801.1:p.Phe1073HisfsTer?
NM_001363658.2:c.922+3879_922+3880del (POLR1C)	NP_001350587.1:n.922+3879_922+3880del
NM_001318876.2:c.922+3879_922+3880del (POLR1C)	NP_001305805.1:n.922+3879_922+3880del
NR_144392.2:n.3529_3530del (XPO5)